Incidental Mutation 'R7169:Meltf'
ID 558151
Institutional Source Beutler Lab
Gene Symbol Meltf
Ensembl Gene ENSMUSG00000022780
Gene Name melanotransferrin
Synonyms MTf, melanotransferrin, Mfi2, CD228
MMRRC Submission 045229-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7169 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 31697628-31717838 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31698980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 30 (D30G)
Ref Sequence ENSEMBL: ENSMUSP00000023464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023464]
AlphaFold Q9R0R1
Predicted Effect probably benign
Transcript: ENSMUST00000023464
AA Change: D30G

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000023464
Gene: ENSMUSG00000022780
AA Change: D30G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
TR_FER 23 364 2.62e-183 SMART
TR_FER 366 719 4.23e-178 SMART
low complexity region 721 734 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cell-surface glycoprotein found on melanoma cells. The protein shares sequence similarity and iron-binding properties with members of the transferrin superfamily. The importance of the iron binding function has not yet been identified. This gene resides in the same region of chromosome 3 as members of the transferrin superfamily. Alternative splicing results in two transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile, exhibit no physical defects, and develop normally with no detectable alterations in iron metabolism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts14 A G 10: 61,040,707 (GRCm39) V870A probably damaging Het
Ahi1 T G 10: 20,930,918 (GRCm39) D919E probably damaging Het
Angptl6 T A 9: 20,786,475 (GRCm39) R390S probably damaging Het
Arhgef11 A G 3: 87,634,755 (GRCm39) I873V possibly damaging Het
BC024063 T C 10: 81,946,293 (GRCm39) Y638H possibly damaging Het
Brsk1 T C 7: 4,718,403 (GRCm39) S751P probably benign Het
Calhm5 T A 10: 33,968,160 (GRCm39) T298S probably damaging Het
Cdh20 G A 1: 104,875,078 (GRCm39) A287T possibly damaging Het
Clic3 G A 2: 25,348,731 (GRCm39) R237H probably benign Het
Cog6 G T 3: 52,897,387 (GRCm39) P562H possibly damaging Het
Csnk2a2 A G 8: 96,215,006 (GRCm39) Y24H Het
Ctif T C 18: 75,605,087 (GRCm39) D484G probably damaging Het
Cyria A G 12: 12,409,233 (GRCm39) D71G possibly damaging Het
Dennd6b A T 15: 89,073,055 (GRCm39) F161I possibly damaging Het
Dnah14 G T 1: 181,529,930 (GRCm39) V2235L probably benign Het
Dnah6 A T 6: 73,015,729 (GRCm39) V3636D probably damaging Het
Dpm1 A T 2: 168,053,343 (GRCm39) Y207* probably null Het
Eml3 A G 19: 8,910,828 (GRCm39) T227A probably damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Eppk1 C A 15: 75,990,114 (GRCm39) A2256S probably benign Het
Etnppl A T 3: 130,414,345 (GRCm39) N80I probably damaging Het
Eya4 A T 10: 23,031,845 (GRCm39) N236K probably benign Het
Gm12886 T G 4: 121,273,948 (GRCm39) Q89H probably damaging Het
Gsdme T C 6: 50,204,358 (GRCm39) T200A probably benign Het
Hipk1 C T 3: 103,651,533 (GRCm39) A1122T probably benign Het
Icos A G 1: 61,034,705 (GRCm39) D176G probably damaging Het
Igkv5-43 T A 6: 69,800,519 (GRCm39) Y56F probably damaging Het
Il1r1 T C 1: 40,332,519 (GRCm39) probably null Het
Ildr2 G A 1: 166,135,503 (GRCm39) probably null Het
Ilf3 T A 9: 21,306,722 (GRCm39) H305Q probably damaging Het
Insrr A G 3: 87,715,901 (GRCm39) H532R probably benign Het
Lmbr1l CACTACATACTACATACTACATACTACATACTACATACTACATAC CACTACATACTACATACTACATACTACATACTACATACTACATACTACATAC 15: 98,807,039 (GRCm39) probably null Het
Lmbr1l ACTACAT ACTACATGCTACAT 15: 98,807,075 (GRCm39) probably benign Het
Lratd1 A G 12: 14,200,619 (GRCm39) F36S probably damaging Het
Lrrc25 T G 8: 71,070,437 (GRCm39) S73A probably benign Het
Lrrn1 T C 6: 107,544,565 (GRCm39) L121P probably damaging Het
Ly6c1 C A 15: 74,916,495 (GRCm39) V116L probably benign Het
Mroh7 T A 4: 106,548,836 (GRCm39) D1009V probably damaging Het
Mybpc3 T C 2: 90,948,524 (GRCm39) V4A possibly damaging Het
Mycbp2 A G 14: 103,497,636 (GRCm39) S979P possibly damaging Het
Ntn5 C T 7: 45,336,198 (GRCm39) R210* probably null Het
Nuak1 T C 10: 84,210,609 (GRCm39) D493G probably damaging Het
Oprk1 T A 1: 5,659,304 (GRCm39) D11E probably benign Het
Or13a1 G T 6: 116,471,025 (GRCm39) A152S probably benign Het
Or4f14 A G 2: 111,742,939 (GRCm39) M112T possibly damaging Het
Or4k37 T A 2: 111,158,943 (GRCm39) Y60N probably damaging Het
Or56a41 T C 7: 104,740,397 (GRCm39) I150V possibly damaging Het
Pkd1l2 T A 8: 117,767,574 (GRCm39) T1239S possibly damaging Het
Pkm A G 9: 59,578,908 (GRCm39) D296G possibly damaging Het
Pof1b A G X: 111,554,042 (GRCm39) I544T probably benign Het
Pop5 T A 5: 115,378,287 (GRCm39) V77E possibly damaging Het
Ppp1r10 T C 17: 36,240,365 (GRCm39) S552P probably damaging Het
Rabggta C G 14: 55,958,358 (GRCm39) R101P probably damaging Het
Rorc A T 3: 94,296,487 (GRCm39) E243V probably benign Het
Setmar C A 6: 108,042,049 (GRCm39) A3E possibly damaging Het
Skor2 T A 18: 76,948,681 (GRCm39) V801E probably benign Het
Slc12a7 G A 13: 73,932,679 (GRCm39) V56M probably benign Het
Snph T A 2: 151,436,307 (GRCm39) N207I probably damaging Het
Snx14 A G 9: 88,280,362 (GRCm39) V531A probably damaging Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Tlr3 A T 8: 45,850,056 (GRCm39) M871K probably damaging Het
Tnfrsf11a A T 1: 105,772,421 (GRCm39) R569S possibly damaging Het
Trim66 A G 7: 109,054,328 (GRCm39) V1294A probably benign Het
Vldlr G A 19: 27,221,728 (GRCm39) V698I probably benign Het
Vmn2r73 G A 7: 85,507,663 (GRCm39) Q550* probably null Het
Zdhhc5 A T 2: 84,532,675 (GRCm39) probably null Het
Zfhx3 T A 8: 109,678,030 (GRCm39) Y3027N possibly damaging Het
Zfp663 C T 2: 165,194,359 (GRCm39) S620N probably benign Het
Other mutations in Meltf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01811:Meltf APN 16 31,707,803 (GRCm39) missense probably damaging 1.00
IGL02942:Meltf APN 16 31,709,596 (GRCm39) nonsense probably null
IGL03340:Meltf APN 16 31,711,602 (GRCm39) missense probably damaging 1.00
R0734:Meltf UTSW 16 31,700,776 (GRCm39) missense probably damaging 0.99
R1023:Meltf UTSW 16 31,703,778 (GRCm39) missense probably damaging 1.00
R1751:Meltf UTSW 16 31,702,747 (GRCm39) missense probably damaging 1.00
R1767:Meltf UTSW 16 31,702,747 (GRCm39) missense probably damaging 1.00
R1851:Meltf UTSW 16 31,715,395 (GRCm39) missense probably benign 0.00
R1900:Meltf UTSW 16 31,700,787 (GRCm39) critical splice donor site probably null
R1993:Meltf UTSW 16 31,711,440 (GRCm39) nonsense probably null
R3423:Meltf UTSW 16 31,715,343 (GRCm39) nonsense probably null
R3425:Meltf UTSW 16 31,715,343 (GRCm39) nonsense probably null
R3804:Meltf UTSW 16 31,703,816 (GRCm39) missense probably benign 0.23
R4724:Meltf UTSW 16 31,711,323 (GRCm39) missense probably benign 0.03
R4976:Meltf UTSW 16 31,713,532 (GRCm39) missense probably benign 0.01
R5007:Meltf UTSW 16 31,706,380 (GRCm39) missense possibly damaging 0.60
R5058:Meltf UTSW 16 31,706,421 (GRCm39) splice site probably null
R5534:Meltf UTSW 16 31,709,632 (GRCm39) critical splice donor site probably null
R5661:Meltf UTSW 16 31,700,744 (GRCm39) missense possibly damaging 0.65
R6028:Meltf UTSW 16 31,706,294 (GRCm39) missense possibly damaging 0.91
R6424:Meltf UTSW 16 31,699,080 (GRCm39) nonsense probably null
R6464:Meltf UTSW 16 31,709,594 (GRCm39) missense probably benign 0.19
R6479:Meltf UTSW 16 31,700,700 (GRCm39) missense probably damaging 1.00
R6525:Meltf UTSW 16 31,707,717 (GRCm39) nonsense probably null
R6629:Meltf UTSW 16 31,703,894 (GRCm39) missense probably damaging 1.00
R6964:Meltf UTSW 16 31,698,980 (GRCm39) missense probably benign 0.41
R7133:Meltf UTSW 16 31,711,617 (GRCm39) missense probably damaging 1.00
R7198:Meltf UTSW 16 31,702,617 (GRCm39) missense possibly damaging 0.61
R7212:Meltf UTSW 16 31,709,632 (GRCm39) critical splice donor site probably null
R7246:Meltf UTSW 16 31,713,680 (GRCm39) missense probably damaging 1.00
R7407:Meltf UTSW 16 31,713,553 (GRCm39) missense probably damaging 1.00
R7424:Meltf UTSW 16 31,703,764 (GRCm39) missense probably damaging 1.00
R7475:Meltf UTSW 16 31,700,756 (GRCm39) missense probably benign 0.12
R7727:Meltf UTSW 16 31,702,612 (GRCm39) missense probably damaging 0.99
R7764:Meltf UTSW 16 31,699,085 (GRCm39) missense probably benign 0.01
R8220:Meltf UTSW 16 31,706,233 (GRCm39) missense probably benign 0.01
R8840:Meltf UTSW 16 31,716,020 (GRCm39) missense probably damaging 0.98
R8896:Meltf UTSW 16 31,709,522 (GRCm39) splice site probably benign
R9214:Meltf UTSW 16 31,697,763 (GRCm39) missense probably benign
R9563:Meltf UTSW 16 31,703,869 (GRCm39) missense probably damaging 1.00
R9638:Meltf UTSW 16 31,706,409 (GRCm39) missense possibly damaging 0.87
X0062:Meltf UTSW 16 31,699,018 (GRCm39) missense probably damaging 1.00
Z1177:Meltf UTSW 16 31,699,052 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAGGTTATGAGCCACCCATCTG -3'
(R):5'- GTGCATTCCTCCTGAGTCAG -3'

Sequencing Primer
(F):5'- CGAGTCCGTAGCACCGATTC -3'
(R):5'- GAGTCAGAGCCCTCTTGTCTG -3'
Posted On 2019-06-26